ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.582+3A>G

gnomAD frequency: 0.01823  dbSNP: rs114290622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118630 SCV000306343 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000118630 SCV000517144 benign not specified 2016-05-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000559514 SCV000652863 benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118630 SCV000153038 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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